Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

Amyotrophic Lateral Sclerosis

Volumn 11, Issue 1-2, 2010, Pages 223-227

  Origone, Paola ^a   Caponnetto, Claudia ^a   Bandettini Di Poggio, Monica ^a   Ghiglione, Elisabetta ^b   Bellone, Emilia ^a   Ferrandes, Giovanna ^a   Mancardi, Giovanni Luigi ^a   Mandich, Paola ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UO Neurologia   (Italy)

Author keywords

ALS; Genetic counselling; S393L; TARDBP; TDP 43

Indexed keywords

GENOMIC DNA; PERIPHERAL MYELIN PROTEIN 22; TAR DNA BINDING PROTEIN;

ADULT; AGED; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 17P; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DEATH; DISEASE COURSE; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; EXON; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPESTHESIA; INTRON; MALE; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; PARESTHESIA; PHENOTYPIC VARIATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; SIBLING; TENDON REFLEX; TRANSCRANIAL MAGNETIC STIMULATION;

AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; BACTERIAL PROTEINS; DNA-BINDING PROTEINS; EXONS; FAMILY HEALTH; FEMALE; GENETIC COUNSELING; GENETIC VARIATION; HUMANS; INTRONS; ITALY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 77649302652     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482960903165039     Document Type: Article

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